rs749220643

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	5	Familial Hypercholesterolemia
(G;G)	0	common in clinvar

Make rs749220643(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

19

Position

11106681

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs749220643
dbSNP (classic)	rs749220643
ClinGen	rs749220643
ebi	rs749220643
HLI	rs749220643
Exac	rs749220643
Gnomad	rs749220643
Varsome	rs749220643
LitVar	rs749220643
Map	rs749220643
PheGenI	rs749220643
Biobank	rs749220643
1000 genomes	rs749220643
hgdp	rs749220643
ensembl	rs749220643
geneview	rs749220643
scholar	rs749220643
google	rs749220643
pharmgkb	rs749220643
gwascentral	rs749220643
openSNP	rs749220643
23andMe	rs749220643
SNPshot	rs749220643
SNPdbe	rs749220643
MSV3d	rs749220643
GWAS Ctlg	rs749220643

Max Magnitude

5

ClinVar
Risk	rs749220643(A;A)
Alt	rs749220643(A;A)
Reference	Rs749220643(G;G)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11217357G>A
CLNSRC
CLNACC	RCV000172960.1,